AQP5 (aquaporin 5)

Gene

• Entrez ID: 362
• Gene name: Aquaporin 5
• Gene symbol: AQP5
• Synonyms (NCBI Gene): AQP-5, PPKB
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, A

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018488	hsa-miR-335-5p	Microarray	18185580
MIRT736082	hsa-miR-1271-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33760167
MIRT737185	hsa-miR-19b-3p	Luciferase reporter assay, qRT-PCR	31922312
MIRT791541	hsa-miR-1258	CLIP-seq
MIRT791542	hsa-miR-3152-3p	CLIP-seq
MIRT791543	hsa-miR-331-5p	CLIP-seq
MIRT791544	hsa-miR-4659a-3p	CLIP-seq
MIRT791545	hsa-miR-4659b-3p	CLIP-seq
MIRT791546	hsa-miR-4778-3p	CLIP-seq
MIRT791547	hsa-miR-581	CLIP-seq
MIRT2477144	hsa-miR-1237	CLIP-seq
MIRT2477145	hsa-miR-1248	CLIP-seq
MIRT2477146	hsa-miR-3183	CLIP-seq
MIRT2477147	hsa-miR-4713-5p	CLIP-seq
MIRT2477148	hsa-miR-4723-3p	CLIP-seq
MIRT2477144	hsa-miR-1237	CLIP-seq
MIRT2477145	hsa-miR-1248	CLIP-seq
MIRT2477146	hsa-miR-3183	CLIP-seq
MIRT2477147	hsa-miR-4713-5p	CLIP-seq
MIRT2477148	hsa-miR-4723-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26569106
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IEA
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	18768791
GO:0006833	Process	Water transport	IEA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IDA	8621489, 12801959, 18768791
GO:0015250	Function	Water channel activity	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015670	Process	Carbon dioxide transport	IBA
GO:0015670	Process	Carbon dioxide transport	IDA	19273840
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	12801959
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030157	Process	Pancreatic juice secretion	IEP	12801959
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	26569106
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042476	Process	Odontogenesis	IEP	12522663
GO:0042802	Function	Identical protein binding	IPI	18768791
GO:0046541	Process	Saliva secretion	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0051289	Process	Protein homotetramerization	IDA	18768791, 26569106
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071476	Process	Cellular hypotonic response	IDA	26569106

Other IDs

• MIM: 600442
• HGNC: 638
• e!Ensembl: ENSG00000161798

Protein

• UniProt ID: P55064
• Protein name: Aquaporin-5 (AQP-5)
• Protein function: Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion
• PDB: 3D9S, 5C5X, 5DYE, 7STC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00230	MIP	4 → 221	Major intrinsic protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in skin eccrine sweat glands, at the apical cell membrane and at intercellular canaliculi (at protein level). {ECO:0000269|PubMed:23473857}.
• Sequence:

  MKKEVCSVAFLKAVFAEFLATLIFVFFGLGSALKWPSALPTILQIALAFGLAIGTLAQAL
  GPVSGGHINPAITLALLVGNQISLLRAFFYVAAQLVGAIAGAGILYGVAPLNARGNLAVN
  ALNNNTTQGQAMVVELILTFQLALCIFASTDSRRTSPVGSPALSIGLSVTLGHLVGIYFT
  GCSMNPARSFGPAVVMNRFSPAHWVFWVGPIVGAVLAAILYFYLLFPNSLSLSERVAIIK
  GTYEPDEDWEEQREERKKTMELTTR

• Sequence length: 265

Pathways

KEGG:

Salivary secretion

Reactome:

Passive transport by Aquaporins

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Palmoplantar keratoderma, Bothnian type	Likely pathogenic; Pathogenic	rs745563552, rs398123054, rs398123055, rs398123056, rs398123057	RCV001647329 RCV000055668 RCV000055670 RCV000055671 RCV000055672

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AQP5-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs773025827, rs139276257	RCV003978855 RCV003939850

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	30517197
Acute Lung Injury	Associate	27835672
Adenocarcinoma	Associate	19340551
Adenoma	Associate	33423702
Breast Neoplasms	Associate	22145049, 36468842, 36706090, 37681917, 40244097
Bronchitis	Associate	26569106
Carcinogenesis	Associate	23436048, 24224160
Carcinogenesis	Stimulate	36372898
Carcinoma Bronchogenic	Associate	14978691
Carcinoma Ductal	Associate	22145049
Carcinoma Hepatocellular	Associate	24224160, 30805015
Carcinoma Non Small Cell Lung	Associate	21548930
Carcinoma Pancreatic Ductal	Associate	40379788
Cataract	Associate	27497833, 37511188
Cataract Age Related Nuclear	Associate	36470534
Colorectal Neoplasms	Associate	23148732, 24752576, 29799470, 32588739, 37175233, 37334171
Conversion Disorder	Associate	15448705
Corynebacterium Infections	Associate	27255181
COVID 19	Associate	33254543
Cystic Fibrosis	Associate	26569106
Dental Caries	Associate	22508493
Dermatitis Atopic	Inhibit	33868246
Diabetes Insipidus Nephrogenic	Associate	29799470
Diabetic Nephropathies	Associate	27103565
Diffuse palmoplantar keratoderma Bothnian type	Associate	27255181, 36553627
Diffuse palmoplantar keratoderma Bothnian type	Stimulate	36553627
Disease Resistance	Associate	24752576
Dry Eye Syndromes	Associate	28680052, 32437405
Edema	Associate	24612929, 36553627
Glaucoma	Associate	36833422
Glaucoma Open Angle	Associate	36833422
Glioblastoma	Associate	28404978
Glioma	Associate	17549682, 28404978
Hairy palms and soles	Associate	27255181
Hemolytic Uremic Syndrome	Associate	29279852
Hyperglycemic Hyperosmolar Nonketotic Coma	Stimulate	25878490
Hyperhidrosis	Associate	27255181, 36553627
Hypoxia	Associate	25878490
Inflammation	Associate	28594978, 28680052, 30517197, 36177915
Keratoconus	Associate	29860458
Keratoderma Palmoplantar	Associate	23830519, 27255181, 29799470, 36076978, 36553627
Keratoderma Palmoplantar Diffuse	Associate	27255181
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	18612408
Lung Injury	Associate	21151978
Lymphatic Metastasis	Associate	23148732, 25217331, 37334171, 40379788
Lymphatic Metastasis	Stimulate	23436048
Lymphoma Follicular	Associate	19530241
Nasal Polyps	Inhibit	24612929
Neoplasm Metastasis	Associate	22145049, 29258764, 36468842
Neoplasms	Associate	19340551, 23148732, 23436048, 24224160, 25217331, 36468842, 36706090, 37334171, 40379788
Neoplasms	Stimulate	24752576
Neoplasms Glandular and Epithelial	Associate	34502121
Ovarian Neoplasms	Associate	29472315, 30022455, 32977853
Pancreatic Neoplasms	Associate	37761834, 40305202
Pneumonia	Associate	30517197
Polyps	Associate	24612929
Prostatic Hyperplasia	Stimulate	33031138
Prostatic Neoplasms	Associate	25217331
Pruritus	Associate	36553627
Pulmonary Disease Chronic Obstructive	Associate	18853286, 21151978, 25329998
Respiratory Distress Syndrome	Associate	30517197
Rhinitis Allergic	Inhibit	33868246
Salivary Gland Neoplasms	Associate	32075009
Sarcoma	Associate	29258764
Sepsis	Associate	30517197
Sinusitis	Associate	24612929
Sjogren's Syndrome	Inhibit	15448705, 36177915
Sjogren's Syndrome	Associate	15640830, 26569106, 29925705, 34502121
Squamous Cell Carcinoma of Head and Neck	Inhibit	36389709
Stomach Neoplasms	Associate	19340551, 23436048, 29678898, 34135208, 36372898
Triple Negative Breast Neoplasms	Associate	39206896
Tuberculosis Multidrug Resistant	Associate	24752576
Xerostomia	Associate	15640830, 29925705